The project, co-funded by the European Union’s Third Health Programme, started on January 2019 and has ended in December 2021. The objective of this project was to support Member States in improving gathering information on rare diseases (including undiagnosed) by implementation of ORPHAcodes (rare diseases specific codification system). The implementation process has been guided by the « Standard procedure and guide for the coding with Orphacodes » and the « Specification and implementation manual of the Master file » both developed in the frame of the previous Joint Action on rare Diseases RD-ACTION (2015-2018). Starting with countries that had no systematic implementation of the ORPHAcodification yet, but that were actively committed already in doing so, this project has provided a sufficient real-world implementation experience (Implementing Countries adoption Report and Countries Reports here) to be captured by other countries in the future (RD-CODE Revised recommendations and Guidelines for ORPHAcoding, and Findings and Lesson Learned Leaflet).
The aim of the RD-CODE project was also to promote the use of the Orphanet nomenclature for implementation into routine coding systems. This enables a standardised and consistent level of information to be shared at European level. A slide show explaining the benefits of using ORPHAcodes is available here, you can also check our video here. Additional dissemination material is available here.
The project outcomes are:
- Development of comprehensive rules of use and meta-data documentation for ORPHAcodes use in clinical health information and other applications that has been developed and rigorously tested in health care systems from European countries of varying sizes, health information systems, and languages. Click here to access this information.
- An electronic repository has been created to house this information, linking to Orphadata, to include: guidance for use of ORPHAcodes; teaching and training documents used in health care systems; tools for export of ORPHAcodes to federated data exploitation at the European level. Click here to access this information.
- Through the collaboration between RD-CODE partners, and additional with key stakeholders invited to workshops, effective implementation will be achieved at implementing country level and momentum will be developed in other jurisdictions to widely implement ORPHAcodes to accurately measure the impact of rare diseases in the Europe.